File:Anophthalmia and microphthalmia.jpg
Anophthalmia_and_microphthalmia.jpg (273 × 477 pixels, file size: 30 KB, MIME type: image/jpeg)
Anophthalmia and Microphthalmia
Clinical appearance of anophthalmia (upper picture) and microphthalmia (lower picture).
- Anophthalmia - clinical description for the absence of an eye. Gene mutation of SOX2, a developmental transcription factor, has been associated with this condition.
- Microphthalmia - clinical description for the presence of a small eye within the orbit and occurs in up to 11% of blind children.
| ICD-11 |
|---|
| LA10.0 Microphthalmos - This is a developmental disorder of the eye that literally means small eye (micros = small; ophthalmos = eye). One (Unilateral Microphthalmia) or both (Bilateral Microphthalmia) eyes may be involved.
LA10.1 Clinical anophthalmos - This refers to the clinical absence of one or both eyes. Both the globe (human eye) and the ocular tissue are missing from the orbit. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar prominence. Genetic mutations, chromosomal abnormalities, and prenatal environment can all cause anophthalmia. Anophthalmia is an extremely rare disease and is mostly rooted in genetic abnormalities. |
- Links: anophthalmia | microphthalmia | Image - Anophthalmia and microphthalmia | Image - Anophthalmia | Image - Microphthalmia | Sensory - Vision Abnormalities
Reference
Verma AS & Fitzpatrick DR. (2007). Anophthalmia and microphthalmia. Orphanet J Rare Dis , 2, 47. PMID: 18039390 DOI.
Copyright
© 2007 Verma and FitzPatrick; licensee BioMed Central Ltd.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Original file name: 1750-1172-2-47-1.jpg
Cite this page: Hill, M.A. (2024, April 19) Embryology Anophthalmia and microphthalmia.jpg. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/File:Anophthalmia_and_microphthalmia.jpg
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G
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| Date/Time | Thumbnail | Dimensions | User | Comment | |
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| current | 23:14, 24 August 2009 | | 273 × 477 (30 KB) | S8600021 (talk | contribs) | Clinical appearance of anophthalmia (upper picture) and microphthalmia (lower picture). Original file name: 1750-1172-2-47-1.jpg Verma and FitzPatrick Orphanet Journal of Rare Diseases 2007 2:47 doi:10.1186/1750-1172-2-47 http://www.ojrd.com/content/ |
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